Aliases for LHFPL5 Gene
External Ids for LHFPL5 Gene
Previous HGNC Symbols for LHFPL5 Gene
Previous GeneCards Identifiers for LHFPL5 Gene
This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]
GeneCards Summary for LHFPL5 Gene
LHFPL5 (LHFPL Tetraspan Subfamily Member 5) is a Protein Coding gene. Diseases associated with LHFPL5 include Deafness, Autosomal Recessive 67 and Autosomal Recessive Non-Syndromic Intellectual Disability. An important paralog of this gene is LHFPL3.
UniProtKB/Swiss-Prot for LHFPL5 Gene
In the inner ear, may be a component of the hair cells mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation (By similarity).